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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NEB

Variant:p.N2956delFs

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NEB

NM_001164508.2:p.N2956delFs

hg38:chr2:151639878 AT>A

Associated Papers

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.

Reischer T et al.

Prenatal Diagnosis, 2020

32779773 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."